A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2764823



Internal ID17857406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:172816869..172819942hg38UCSC Ensembl
Innerchr1:172786009..172789082hg19UCSC Ensembl
Innerchr1:171052632..171055705hg18UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg383074
hg193074
hg183074
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947450
Supporting Variants
SamplesHGDP01029
Known Genes
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2764823
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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